Publications by authors named "Hugo Hessel"
Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13.
Eur J Obstet Gynecol Reprod Biol
November 2024
Article Synopsis
- * A total of 4,532 NIPT tests were performed, with 125 indicating an increased risk for trisomies 13, 18, 21, and sex chromosome abnormalities; further testing revealed other chromosomal issues not covered by standard NIPT.
- * The findings showcase the ability of NIPT to detect complex chromosomal abnormalities, such as segmental duplications and mosaicism, underscoring its potential for genome-wide screening of copy number variations. *